| H01968 | |
| H number | H01968 |
| Name | Hyper-IgE syndrome; Job syndrome; Buckley syndrome |
| Description | Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES. |
| Category | Immune system disease |
| Network | nt06518(H01968) JAK-STAT signaling |
| Gene | (HIES1) STAT3 [HSA:6774] [KO:K04692] (HIES2) DOCK8 [HSA:81704] [KO:K21852] (HIES3) ZNF341 [HSA:84905] [KO:K24852] (HIES4) IL6ST [HSA:3572] [KO:K05060] (HIES5) IL6R [HSA:3570] [KO:K05055] (HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219] (HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.34 ICD-10: D82.4 MeSH: D007589 OMIM: 147060 243700 618282 618523 611521 615816 618944 |
| Reference | PMID:19717292 AUTHORS Minegishi Y TITLE Hyper-IgE syndrome. JOURNAL Curr Opin Immunol 21:487-92 (2009) DOI:10.1016/j.coi.2009.07.013 PMID:28567072 AUTHORS Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH TITLE Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities. JOURNAL J Res Med Sci 22:53 (2017) DOI:10.4103/jrms.JRMS_1050_16 PMID:15661034 AUTHORS Grimbacher B, Holland SM, Puck JM TITLE Hyper-IgE syndromes. JOURNAL Immunol Rev 203:244-50 (2005) DOI:10.1111/j.0105-2896.2005.00228.x PMID:24589341 AUTHORS Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD TITLE Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. JOURNAL J Allergy Clin Immunol 133:1400-9, 1409.e1-5 (2014) DOI:10.1016/j.jaci.2014.02.013 PMID:19776401 AUTHORS Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC TITLE Combined immunodeficiency associated with DOCK8 mutations. JOURNAL N Engl J Med 361:2046-55 (2009) DOI:10.1056/NEJMoa0905506 PMID:17088085 AUTHORS Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H TITLE Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. JOURNAL Immunity 25:745-55 (2006) DOI:10.1016/j.immuni.2006.09.009 PMID:29907691 AUTHORS Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Levy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Muller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL TITLE A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. JOURNAL Sci Immunol 3:3/24/eaat4956 (2018) DOI:10.1126/sciimmunol.aat4956 PMID:28747427 AUTHORS Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Muller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH TITLE A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. JOURNAL J Exp Med 214:2547-2562 (2017) DOI:10.1084/jem.20161810 PMID:31235509 AUTHORS Spencer S, Kostel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gurel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavare S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED TITLE Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. JOURNAL J Exp Med 216:1986-1998 (2019) DOI:10.1084/jem.20190344 |